Differences in mean age at diagnosis of invasive melanoma for men and women, by anatomic site, thickness, and subtype.

Background: Understanding the factors influencing age at melanoma diagnosis by sex and anatomic site is crucial for developing effective prevention and early detection strategies. While previous research has highlighted sex-based differences in melanoma incidence by age and anatomic distribution, the underlying mechanisms remain unclear. We aimed to investigate sex-specific patterns in melanoma age at diagnosis across different anatomic sites and thickness categories, considering the potential influence of disease progression and detection rates.

Skin cancer in Europe today and challenges for tomorrow.

One in every three cancers diagnosed is a skin cancer. Europe has the global lead in the number of UV-attributable cancer cases with the highest number of melanoma cases worldwide and the second highest number of keratinocyte cancers (KC). Further increases are expected in Europe for the coming decades.

Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.

Purpose: This study investigated the relationship between mucopolysaccharidosis II (MPS II) iduronate-2-sulfatase gene (IDS) variants and phenotypic characteristics, particularly cognitive impairment, using data from the Hunter Outcome Survey (HOS) registry.

Methods: HOS data for male patients (n = 650) aged ≥5 years at latest cognitive assessment with available genetic data were analyzed. Predefined genotype categories were used to classify IDS variants and report phenotypic characteristics by genotype.

A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner.

We deployed the Blended Genome Exome (BGE), a DNA library blending approach that generates low pass whole genome (1-4× mean depth) and deep whole exome (30-40× mean depth) data in a single sequencing run. This technology is cost-effective, empowers most genomic discoveries possible with deep whole genome sequencing, and provides an unbiased method to capture the diversity of common SNP variation across the globe. To evaluate this new technology at scale, we applied BGE to sequence >53,000 samples from the Populations Underrepresented in Mental Illness Associations Studies (PUMAS) Project, which included participants across African, African American, and Latin American populations.

No evidence that retinol is protective for skin cancer.

With over 1.5 million new cases annually, skin cancers are the most commonly diagnosed group of cancers worldwide. Among these, melanoma and keratinocyte cancers (KC), comprising squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), are predominant.

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.

Mucopolysaccharidosis II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X-linked, heterogeneous lysosomal storage disease. Approximately two-thirds of patients develop cognitive impairment, which is difficult to assess in clinical trials, partly owing to the variable nature of cognitive impairment. Analyzing data from siblings can help to minimize this heterogeneity.

Changes in the incidence of melanoma in Australia, 2006-2021, by age group and ancestry: a modelling study.

Objectives: To estimate the incidence of melanoma in Australia among people with ancestries associated with low, moderate, or high risk of melanoma, by sex and 5-year age group; to establish whether age-specific incidence rates by ancestry risk group have changed over time.

Study Design: Modelling study; United States (SEER database) melanoma incidence rates for representative ancestral populations and Australian census data (2006, 2011, 2016, 2021) used to estimate Australian melanoma incidence rates by ancestry-based risk.

Setting, Participants: Australia, 2006-2021.

Exploring the Germline Genetics of In Situ and Invasive Cutaneous Melanoma: A Genome-Wide Association Study Meta-Analysis.

Importance: It is unknown whether germline genetic factors influence in situ melanoma risk differently than invasive melanoma risk.

Objective: To determine whether differences in risk of in situ melanoma and invasive melanoma are heritable.

Design, Setting, And Participants: Three genome-wide association study meta-analyses were conducted of in situ melanoma vs controls, invasive melanoma vs controls, and in situ vs invasive melanoma (case-case) using 4 population-based genetic cohorts: the UK Biobank, the FinnGen cohort, the QSkin Sun and Health Study, and the Queensland Study of Melanoma: Environmental and Genetic Associations (Q-MEGA).

Estimating the magnitude and healthcare costs of melanoma in situ and thin invasive melanoma overdiagnosis in Australia.

Background: Research suggests that a high proportion of melanoma in situ (MIS) may be overdiagnosed, potentially contributing to overtreatment, patient harm and inflated costs for individuals and healthcare systems. However, Australia-wide estimates of the magnitude of melanoma overdiagnosis are potentially outdated and there has been no estimation of the cost to the healthcare system.

Objectives: To estimate the magnitude and cost of overdiagnosed MIS and thin invasive melanomas in Australia.

Phenotypic and genotypic risk factors for invasive melanoma by sex and body site.

Background: Cutaneous melanoma incidence varies consistently across body sites between men and women, but the underlying causes of these differences remain unclear. To date, no prospective studies have examined risk factors for melanoma separately for men and women according to body site.

Objectives: We aimed to examine the association between identified constitutional, genetic and environmental risk factors for invasive melanoma of different body sites among men and women.

Does Sex Matter? Temporal Analyses of Melanoma Trends among Men and Women Suggest Etiologic Heterogeneity.

The incidence and distribution of cutaneous melanoma differ between the sexes, but it is unclear whether these differences have been constant through time or across generations. We compared incidence trends by age, sex, and anatomic site by analyzing long-term melanoma data (1982-2018) in 3 populations residing at high-, moderate-, and low-ambient sun exposure: Queensland, Australia; United States White; and Scotland. We fit age-period-cohort models and compared trends in the male-to-female incidence rate ratio by site and sex.

Computer Vision for Gait Assessment in Cerebral Palsy: Metric Learning and Confidence Estimation.

Assessing the motor impairments of individuals with neurological disorders holds significant importance in clinical practice. Currently, these clinical assessments are time-intensive and depend on qualitative scales administered by trained healthcare professionals at the clinic. These evaluations provide only coarse snapshots of a person's abilities, failing to track quantitatively the detail and minutiae of recovery over time.

Age group-specific changes in keratinocyte cancer treatment rates in Australia, 2012-2021: a retrospective cohort study based on MBS claims data.

Objectives: To examine recent changes in the numbers of Medicare-subsidised keratinocyte cancer excisions, particularly for younger people exposed to primary prevention campaigns since the early 1980s.

Study Design: Retrospective cohort study; analysis of administrative data.

Setting, Participants: Analysis of Medicare Benefits Schedule (MBS) claims data for procedures related to the diagnosis and treatment of keratinocyte cancer in Australia, 2012-2021.

Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment.

Background: Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by iduronate-2-sulfatase gene (IDS) deficiency and downstream glycosaminoglycan accumulation. Two-thirds of patients present with neuronopathic disease and evaluating cognitive function in these patients is challenging owing to limitations of currently available tests. During the clinical development of intrathecal idursulfase (idursulfase-IT), regulatory authorities requested qualitative data to further understand the neurocognitive changes observed by the investigators through the clinical trials.

Comprehensive Sex-Stratified Genetic Analysis of 28 Blood Biomarkers and Depression Reveals a Significant Association between Depression and Low Levels of Total Protein in Females.

Introduction: Major depression (MD) is more common amongst women than men, and MD episodes have been associated with fluctuations in reproductive hormones amongst women. To investigate biological underpinnings of heterogeneity in MD, the associations between depression, stratified by sex and including perinatal depression (PND), and blood biomarkers, using UK Biobank (UKB) data, were evaluated, and extended to include the association of depression with biomarker polygenic scores (PGS), generated as proxy for each biomarker.

Method: Using female ( = 39,761) and male ( = 38,821) UKB participants, lifetime MD and PND were tested for association with 28 blood biomarkers.

Advancing clinical development for neuronopathic Hunter syndrome through a quantitatively-driven reverse translation framework.

A quantitatively-driven evaluation of existing clinical data and associated knowledge to accelerate drug discovery and development is a highly valuable approach across therapeutic areas, but remains underutilized. This is especially the case for rare diseases for which development is particularly challenging. The current work outlines an organizational framework to support a quantitatively-based reverse translation approach to clinical development.

The effect of three years of vitamin D supplementation on erectile dysfunction: Results from the randomized placebo-controlled D-Health Trial.

Background & Aims: Erectile dysfunction is common among older men and has been associated with low serum 25-hydroxy vitamin D concentration. However, this association may be due to uncontrolled confounding, and there is a paucity of evidence from interventional studies. We aimed to examine the effect of vitamin D supplementation on the prevalence of erectile dysfunction, in an exploratory analysis using data from a large randomized controlled trial.